PLXDC2附近的基因变异通过升高眼压影响日本人群原发性开角型青光眼的发病风险。

Genetic Variant Near PLXDC2 Influences the Risk of Primary Open-angle Glaucoma by Increasing Intraocular Pressure in the Japanese Population.

作者信息

Mabuchi Fumihiko, Mabuchi Nakako, Takamoto Mitsuko, Sakurada Yoichi, Yoneyama Seigo, Kashiwagi Kenji, Iijima Hiroyuki, Yamagata Zentaro, Aihara Makoto, Iwata Takeshi, Araie Makoto

机构信息

Departments of *Ophthalmology ‡Health Sciences, Faculty of Medicine, University of Yamanashi, Yamanashi †Department of Ophthalmology, Tokyo Metropolitan Police Hospital §Department of Ophthalmology, Graduate School of Medicine, University of Tokyo ∥National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center ¶Kanto Central Hospital of the Mutual Aid Association of Public School Teachers, Tokyo, Japan.

出版信息

J Glaucoma. 2017 Nov;26(11):963-966. doi: 10.1097/IJG.0000000000000790.

DOI:10.1097/IJG.0000000000000790

PMID:28930887

Abstract

PURPOSE

The purpose of this study is to assess the association between the genetic variants that were previously reported to be associated with primary open-angle glaucoma (POAG) in the Japanese population and the phenotypic features.

METHODS

A total of 661 Japanese patients including 417 patients with POAG [normal tension glaucoma (NTG), n=210; high tension glaucoma (HTG), n=207] and 244 control subjects without glaucoma were analyzed for 3 genetic variants: rs547984 (near gene: ZP4), rs7081455 (PLXDC2), and rs7961953 (TMTC2). The allele frequency differences between POAG (NTG or HTG) patients and control subjects were estimated. The association between these genetic variants and the phenotypic features, including the maximum intraocular pressure (IOP) and the vertical cup-to-disc ratio, was evaluated.

RESULTS

There was a significant difference in the rs7081455 (PLXDC2) allele frequencies between the POAG (P=0.0050) patients and the control subjects. An almost 1.5 increase in the risk of POAG (P=0.0042, odds ratio 1.52) was found with a G allele of rs7081455 (PLXDC2). The maximum IOP [23.5±10.3 mm Hg (mean±SD)] in patients with the GG genotype of rs7081455 (PLXDC2) was significantly higher (P=0.0037) than that (19.9±7.4 mm Hg) in patients with the TT genotype.

CONCLUSIONS

The genetic variant near the PLXDC2 gene was found to influence the risk of POAG by increasing IOP in the Japanese population.

摘要

目的

本研究旨在评估先前报道的与日本人群原发性开角型青光眼（POAG）相关的基因变异与表型特征之间的关联。

方法

对总共661名日本患者进行分析，其中包括417名POAG患者[正常眼压性青光眼（NTG），n = 210；高眼压性青光眼（HTG），n = 207]和244名无青光眼的对照受试者，检测3种基因变异：rs547984（基因附近：ZP4）、rs7081455（PLXDC2）和rs7961953（TMTC2）。估计POAG（NTG或HTG）患者与对照受试者之间的等位基因频率差异。评估这些基因变异与表型特征之间的关联，包括最大眼压（IOP）和垂直杯盘比。

结果

POAG患者（P = 0.0050）与对照受试者之间rs7081455（PLXDC2）等位基因频率存在显著差异。发现rs7081455（PLXDC2）的G等位基因使POAG风险增加近1.5倍（P = 0.0042，优势比为１.52）。rs7081455（PLXDC2）的GG基因型患者的最大眼压[23.5±10.3 mmHg（平均值±标准差）]显著高于TT基因型患者（19.9±7.4 mmHg）（P = 0.0037）。